Natural History Studies

How can I get involved?

There are many ways to contribute to research through sharing your experiences. Understanding the progression of these diseases is critical to the development of a clinical trial. You can play a role by participating in natural history studies, registries and other data collection studies. If you are considering participating in a research study, you are welcome to call NTSAD to discuss the benefits and risks. Below are current ways to contribute.


A natural history study for Canavan disease sponsored by Aspa Therapeutics. 

Clinical Trials #NCT04126005

Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders (NIH)

This is a natural history study that will evaluate any patient with enzyme or DNA confirmed GM1 or GM2 gangliosidosis, sialidosis or galactosialidosis. 

Clinical Trials #NCT00029965

Patient Insights Network (PIN)

The following PINs have been set up in collaboration with Canavan Research Illinois, the Canavan Foundation, Cure GM1 Foundation and Cure Tay-Sachs Foundation respectively.

  • Canavan Patient Insights Network (PIN) – Join here.
  • GM1 Patient Insights Network (PIN) – Join here.
  • GM2 Patient Insights Network (PIN) – Join here.

PRONTO – Azafaros

A natural history study of GM1 and GM2 (Sandhoff and Tay-Sachs) – Clinical Trial #NCT05109793

Data about the progression of neurological manifestations in the late-infantile or juvenile onset forms of GM1 and GM2 is limited to single patient case reports and small case studies. Taking part in a Natural History study will help collect data in a systematic way, with measurements harmonies between the participating centers. These studies will help in the design of future studies with new future treatments in a more rigorous scientific way.

View video about the study here in either Brazilian Portgueses, French, German, Italian, English (UK), English (United States).

UPenn – Natural History Study of Infantile and Juvenile GM1 Gangliosidosis (GM1) Patients

A natural history study of GM1 gangliosidosis sponsored by Passage Bio.

Clinical Trials #NCT0401102

Need Help?

If you have questions or need more information about research to support your individual or family decisions, please email Family Services Manager Becky Benson ( or Director of Family Services Diana Jussila (formerly Pangonis) (

Funding Research

You do not have to participate in a study to be involved with research. Raising money for research is a vital way for research to continue moving forward.

Tissue Donation

If a loved one has passed away and you would like to help research progress to help others fight the disease, you may consider tissue donation. This is a private and personal decision.

We Care for Rare

Facu y Giuli
Juvenile Tay-Sachs Disease

“Facu (12) y Giuli (16) ellos aman viajar y divertirse en familia”

Alejandra Saipert, Madre